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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by inactivating mutations in the CYP27A1 gene, encoding for sterol 21-hydroxylase, a mitochondrial enzyme, involved in bile acid synthesis.… Click to show full abstract
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by inactivating mutations in the CYP27A1 gene, encoding for sterol 21-hydroxylase, a mitochondrial enzyme, involved in bile acid synthesis. First reported by Bogaert in 1937, hundreds of cases have been described since,1 with an estimated prevalence of <5 per one million people worldwide. The enzyme deficiency leads to decreased bile acid synthesis with resultant excess production and tissue accumulation of cholestanol. This article is protected by copyright. All rights reserved.
Journal Title: Cytopathology
Year Published: 2018
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